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Catalog Number: (BOSSBS-13527R-A647)
Supplier: Bioss
Description: G protein-coupled receptors (GPRs) are a protein family of transmembrane receptors that transmit an extracellular signal (ligand binding) into an intracellular signal (G protein activation). GPR signaling is an ancient evolutionarily mechanism used by all eukaryotes to sense environmental stimuli and mediate cell-cell communication. GPRs have seven membrane-spanning domains and the extracellular domains are often glycosylated. These extracellular loops also contain two highly conserved cysteine residues which create disulfide bonds to stabilize the receptor structure. GPR26 (G-protein coupled receptor 26) is a 337 amino acid protein that is primarily expressed in regions of the brain. GPR26 is characterized as an ‘orphan’ G protein-coupled receptor, which is a receptor that binds an unidentified natural ligand. Due to evidence of GPR26 being downregulated in glioblastomas, it has been suggested that GPR26 may be a suppressor of early glioma development.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13171R-A680)
Supplier: Bioss
Description: The FHAD1 gene encodes a 1,420 amino acid protein and maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9181R-A750)
Supplier: Bioss
Description: Repetin is a 784 amino acid secreted protein that belongs to the S100-fused protein family. Repetin is an extracellular epidermal matrix protein that is expressed in the epidermis and at high levels in eccrine sweat glands, the inner sheaths of hair roots and the filiform papilli of the tongue. A multifunctional epidermal matrix protein, repetin is involved in the cornified cell envelope formation. Containing two EF-hand domains, repetin?s recombinant N-terminal domain binds calcium reversibly. Repetin and trichohyalin may compensate for absent loricrin. The repetin gene contains three exons, two introns and spans at least 5.6 kb. The repetin gene is conserved in cow, mouse and rat, and maps to human chromosome 1q21.3.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13379R-CY7)
Supplier: Bioss
Description: GLT25D2 is a 626 amino acid protein that localizes to endoplasmic reticulum lumen and belongs to the glycosyltransferase 25 family. Possessing beta-galactosyltransferase activity, GLT25D2 transports beta-galactose to hydroxylysine residues on collagen but lacks glucosyltransferase activity. GLT25D2 is expressed in skeletal muscle and brain, and is encoded by a gene located on human chromosome 1q25.3, a region associated with the hereditary prostate cancer (HPC1) locus. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13379R-CY5)
Supplier: Bioss
Description: GLT25D2 is a 626 amino acid protein that localizes to endoplasmic reticulum lumen and belongs to the glycosyltransferase 25 family. Possessing beta-galactosyltransferase activity, GLT25D2 transports beta-galactose to hydroxylysine residues on collagen but lacks glucosyltransferase activity. GLT25D2 is expressed in skeletal muscle and brain, and is encoded by a gene located on human chromosome 1q25.3, a region associated with the hereditary prostate cancer (HPC1) locus. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-15474R-CY3)
Supplier: Bioss
Description: HHAT is a 493 amino acid multi-pass membrane protein that localises to the endoplasmic reticulum and belongs to the membrane-bound acyltransferase family. Expressed ubiquitously, HHAT functions to catalyse the N-terminal palmitoylation of SSH (slingshot homolog), an event that is required for SHH signaling pathways. HHAT is expressed in cancer cell lines, suggesting a role for HHAT in tumorigenesis. The gene encoding HHAT maps to human chromosome 1 and is expressed as four alternatively spliced isoforms. Chromosome 1 is the largest human chromosome, spanning about 260 million base pairs and making up 8% of the human genome. Several disorders, including Stickler syndrome, Parkinsons Disease, Gaucher disease, malignant melanoma and Usher syndrome, are caused by defects in genes that localise to chromosome 1.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-15474R-CY5)
Supplier: Bioss
Description: HHAT is a 493 amino acid multi-pass membrane protein that localises to the endoplasmic reticulum and belongs to the membrane-bound acyltransferase family. Expressed ubiquitously, HHAT functions to catalyse the N-terminal palmitoylation of SSH (slingshot homolog), an event that is required for SHH signaling pathways. HHAT is expressed in cancer cell lines, suggesting a role for HHAT in tumorigenesis. The gene encoding HHAT maps to human chromosome 1 and is expressed as four alternatively spliced isoforms. Chromosome 1 is the largest human chromosome, spanning about 260 million base pairs and making up 8% of the human genome. Several disorders, including Stickler syndrome, Parkinsons Disease, Gaucher disease, malignant melanoma and Usher syndrome, are caused by defects in genes that localise to chromosome 1.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-15474R-CY7)
Supplier: Bioss
Description: HHAT is a 493 amino acid multi-pass membrane protein that localises to the endoplasmic reticulum and belongs to the membrane-bound acyltransferase family. Expressed ubiquitously, HHAT functions to catalyse the N-terminal palmitoylation of SSH (slingshot homolog), an event that is required for SHH signaling pathways. HHAT is expressed in cancer cell lines, suggesting a role for HHAT in tumorigenesis. The gene encoding HHAT maps to human chromosome 1 and is expressed as four alternatively spliced isoforms. Chromosome 1 is the largest human chromosome, spanning about 260 million base pairs and making up 8% of the human genome. Several disorders, including Stickler syndrome, Parkinsons Disease, Gaucher disease, malignant melanoma and Usher syndrome, are caused by defects in genes that localise to chromosome 1.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11708R-A555)
Supplier: Bioss
Description: ATP13A2 is a 1,180 amino acid multi-pass membrane protein that belongs to the P5 subfamily of ATPases which play an important role in the transportation of inorganic cations. Expressed as multiple alternative spliced isoforms, ATP13A2 functions to catalyze the conversion of ATP to ADP and a free phosphate, thereby participating in the active transport of ions across cellular membranes. Defects in the gene encoding ATP13A2 are the cause of Kufor-Rakeb syndrome (KRS), a rare hereditary type of Parkinson’s disease that exhibits juvenile onset and is characterized by neurodegeneration and dementia. The ATP13A2 gene maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13171R-FITC)
Supplier: Bioss
Description: The FHAD1 gene encodes a 1,420 amino acid protein and maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13539R)
Supplier: Bioss
Description: G protein-coupled receptors (GPRs), also known as seven transmembrane receptors, heptahelical receptors or 7TM receptors, comprise a superfamily of proteins that play a role in many different stimulus-response pathways. G protein coupled receptors translate extracellular signals into intracellular signals (G protein activation) and they respond to a variety of signaling molecules, such as hormones and neurotransmitters. GPR52 (G protein-coupled receptor 52) is a 361 amino acid multi-pass membrane protein that belongs to the G-protein coupled receptor 1 family and has been found to be expressed in the caudate and putamen regions of the brain. The gene encoding GPR52 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-15474R-A555)
Supplier: Bioss
Description: HHAT is a 493 amino acid multi-pass membrane protein that localises to the endoplasmic reticulum and belongs to the membrane-bound acyltransferase family. Expressed ubiquitously, HHAT functions to catalyse the N-terminal palmitoylation of SSH (slingshot homolog), an event that is required for SHH signaling pathways. HHAT is expressed in cancer cell lines, suggesting a role for HHAT in tumorigenesis. The gene encoding HHAT maps to human chromosome 1 and is expressed as four alternatively spliced isoforms. Chromosome 1 is the largest human chromosome, spanning about 260 million base pairs and making up 8% of the human genome. Several disorders, including Stickler syndrome, Parkinsons Disease, Gaucher disease, malignant melanoma and Usher syndrome, are caused by defects in genes that localise to chromosome 1.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9667R-CY3)
Supplier: Bioss
Description: DENND2C is a 928 amino acid protein that contains a dDENN domain, a DENN domain, and a uDENN domain and exists as three isoforms as a result of alternative splicing. The DENND2C protein is thought to target to actin filaments and control Rab9-dependent trafficking of mannose-6-phosphate receptor to lysosomes. The gene encoding DENND2C maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9667R-A750)
Supplier: Bioss
Description: DENND2C is a 928 amino acid protein that contains a dDENN domain, a DENN domain, and a uDENN domain and exists as three isoforms as a result of alternative splicing. The DENND2C protein is thought to target to actin filaments and control Rab9-dependent trafficking of mannose-6-phosphate receptor to lysosomes. The gene encoding DENND2C maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinson's, Gaucher disease and Usher syndrome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9768R-A750)
Supplier: Bioss
Description: C10orf47 is a 435 amino acid protein that exists as two alternatively spliced isoforms that are encoded by a gene located on human chromosome 10. Spanning nearly 135 million base pairs, chromosome 10 makes up approximately 4.5% of total DNA in cells and encodes nearly 1200 genes. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman's syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11083R-A555)
Supplier: Bioss
Description: Junctophilins are components of the junctional complexes between plasma membranes and endoplasmic or sarcoplasmic reticulums present in all excitable cells. Junctophilins contain a cytoplasmic domain which binds to the plasma membrane, as well as an ER/SR membrane spanning hydrophobic C-terminal segment. The three subtypes in this family are Junctophilin-1, -2 and -3. Junctophilin-1 is predominantly expressed in skeletal muscle, but is also expressed at low levels in heart. Junctophilin-2 is expressed in heart and skeletal muscle. Mutant mice lacking the Jph2 gene exhibit embryonic lethality and possess cardiac myocytes that express abnormal calcium transients. Junctophilin-3 is expressed in brain. The JPH3 alternatively spliced exon 2A has been suggested as a site for CTG repeat expansion leading to a Huntington disease-like autosomal dominant disorder.
UOM: 1 * 100 µl


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Stock for this item is limited, but may be available in a warehouse close to you. Please make sure that you are logged in to the site so that available stock can be displayed. If the call is still displayed and you need assistance, please call us on +353 1 88 22222.
This product is marked as restricted and can only be purchased by approved Shipping Accounts. If you need further assistance, email VWR Regulatory Department at eurega_services@eu.vwr.com
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